Incidental Mutation 'R2407:Lin28b'
ID 248064
Institutional Source Beutler Lab
Gene Symbol Lin28b
Ensembl Gene ENSMUSG00000063804
Gene Name lin-28 homolog B
Synonyms D030047M17Rik, 2810403D23Rik
MMRRC Submission 040373-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2407 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 45252713-45362410 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45257183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 265 (I265N)
Ref Sequence ENSEMBL: ENSMUSP00000078361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079390]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000079390
AA Change: I265N

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000078361
Gene: ENSMUSG00000063804
AA Change: I265N

DomainStartEndE-ValueType
CSP 29 100 3.98e-14 SMART
ZnF_C2HC 150 166 2.77e-2 SMART
ZnF_C2HC 172 188 1.79e-1 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the lin-28 family, which is characterized by the presence of a cold-shock domain and a pair of CCHC zinc finger domains. This gene is highly expressed in testis, fetal liver, placenta, and in primary human tumors and cancer cell lines. It is negatively regulated by microRNAs that target sites in the 3' UTR, and overexpression of this gene in primary tumors is linked to the repression of let-7 family of microRNAs and derepression of let-7 targets, which facilitates cellular transformation. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal dwarfism in male, but not female, mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik A T 6: 65,930,212 (GRCm39) N149I probably benign Het
Agxt G T 1: 93,063,502 (GRCm39) A135S probably benign Het
Aldh1a2 A T 9: 71,159,880 (GRCm39) I40F probably damaging Het
Ang T A 14: 51,339,103 (GRCm39) C81* probably null Het
Apc G T 18: 34,447,315 (GRCm39) V1370F possibly damaging Het
Arfgef3 T C 10: 18,553,614 (GRCm39) T127A possibly damaging Het
Cd1d1 A G 3: 86,905,489 (GRCm39) L168P probably damaging Het
Cfap251 A T 5: 123,428,032 (GRCm39) M510L probably benign Het
Epb42 C A 2: 120,855,233 (GRCm39) V451F probably damaging Het
F5 T A 1: 164,039,441 (GRCm39) L2017Q probably damaging Het
Hmcn2 A T 2: 31,225,424 (GRCm39) probably null Het
Kif13a G A 13: 46,930,573 (GRCm39) P164S probably damaging Het
Kirrel1 T A 3: 86,992,150 (GRCm39) I593F probably benign Het
Mctp2 A T 7: 71,850,155 (GRCm39) D507E probably benign Het
Morc3 G A 16: 93,641,215 (GRCm39) probably null Het
Myo3b T C 2: 70,085,597 (GRCm39) Y750H probably damaging Het
Nrp1 T C 8: 129,158,426 (GRCm39) S238P probably damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Otog A G 7: 45,890,964 (GRCm39) E41G probably benign Het
Pclo G T 5: 14,728,946 (GRCm39) probably benign Het
Pdzd2 T C 15: 12,373,247 (GRCm39) D2296G probably damaging Het
Peak1 A G 9: 56,166,510 (GRCm39) C473R probably damaging Het
Rad51ap2 T A 12: 11,508,502 (GRCm39) M808K probably damaging Het
Sec24b A C 3: 129,795,965 (GRCm39) S651A probably benign Het
Slc17a3 G A 13: 24,036,418 (GRCm39) probably null Het
Slc4a10 A G 2: 62,143,687 (GRCm39) H1074R probably benign Het
Spata31d1b A G 13: 59,864,660 (GRCm39) K603E possibly damaging Het
Spata31e2 A T 1: 26,721,919 (GRCm39) M1087K possibly damaging Het
Sptbn4 T A 7: 27,117,523 (GRCm39) K409* probably null Het
Tacc2 G A 7: 130,223,770 (GRCm39) V152I possibly damaging Het
Tiam2 A G 17: 3,527,536 (GRCm39) M65V probably benign Het
Tmem131l G T 3: 83,829,355 (GRCm39) Q1100K probably benign Het
Togaram1 T C 12: 65,014,444 (GRCm39) M565T probably damaging Het
Trib1 T C 15: 59,526,449 (GRCm39) Y340H probably benign Het
Wdr7 A T 18: 63,893,794 (GRCm39) M643L probably benign Het
Zfp51 A T 17: 21,684,093 (GRCm39) H236L probably damaging Het
Other mutations in Lin28b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02598:Lin28b APN 10 45,296,622 (GRCm39) missense possibly damaging 0.57
IGL02819:Lin28b APN 10 45,346,155 (GRCm39) start codon destroyed probably null 0.10
R0885:Lin28b UTSW 10 45,257,324 (GRCm39) missense probably damaging 1.00
R4962:Lin28b UTSW 10 45,296,736 (GRCm39) missense possibly damaging 0.90
R5523:Lin28b UTSW 10 45,345,164 (GRCm39) nonsense probably null
R7122:Lin28b UTSW 10 45,345,244 (GRCm39) missense probably benign 0.18
R7293:Lin28b UTSW 10 45,295,282 (GRCm39) missense probably benign
R8386:Lin28b UTSW 10 45,345,140 (GRCm39) missense probably damaging 1.00
Z1177:Lin28b UTSW 10 45,296,702 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGACACCCTGCTTAAATGTAG -3'
(R):5'- CCAGTTCTCAGGGAAGACAG -3'

Sequencing Primer
(F):5'- GACACCCTGCTTAAATGTAGTTTGC -3'
(R):5'- GAGGCAGAATCCCAGCCATG -3'
Posted On 2014-11-11